McCune-Albright Syndrome: A Case Report and Review of Literature

Int J Mol Sci. 2023 May 9;24(10):8464. doi: 10.3390/ijms24108464.

Abstract

McCune-Albright syndrome (MAS) is a rare sporadic condition defined by the classic triad of fibrous dysplasia of bone, café au lait skin macules, and hyperfunctioning endocrinopathies. The molecular basis of MAS has been ascribed to the post-zygotic somatic gain-of-function mutations in the GNAS gene, which encodes the alpha subunit of G proteins, leading to constitutive activation of several G Protein-Coupled Receptors (GPCRs). The co-occurrence of two of the above-mentioned cardinal clinical manifestations sets the diagnosis at the clinical level. In this case report, we describe a 27-month-old girl who presented with gonadotropin-independent precocious puberty secondary to an estrogen-secreting ovarian cyst, a café au lait skin macule and growth hormone, and prolactin excess, and we provide an updated review of the scientific literature on the clinical features, diagnostic work-up, and therapeutic management of MAS.

Keywords: McCune–Albright syndrome; café au lait macules; gonadotropin-independent precocious puberty; growth hormone excess; ovarian cyst; vaginal bleeding.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Cafe-au-Lait Spots / diagnosis
  • Cafe-au-Lait Spots / genetics
  • Child, Preschool
  • Endocrine System Diseases* / complications
  • Female
  • Fibrous Dysplasia, Polyostotic* / complications
  • Fibrous Dysplasia, Polyostotic* / diagnosis
  • Fibrous Dysplasia, Polyostotic* / genetics
  • Human Growth Hormone*
  • Humans
  • Puberty, Precocious* / diagnosis
  • Puberty, Precocious* / genetics

Substances

  • Human Growth Hormone

Grants and funding

This research received no external funding.